Monitoring for cancer risk in neurofibromatosis type 1 tumors

Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)

This study is trying to find out which harmless tumors in people with neurofibromatosis type 1 might turn into cancer so that doctors can better monitor patients at risk.

Quick facts

• Study type: Observational
• Enrollment: 225 (estimated)
• Ages: 3 Years to 120 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Drugs / interventions: radiation
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT06222203 on ClinicalTrials.gov

What this trial studies

This observational study aims to identify which benign tumors associated with neurofibromatosis type 1 (NF1) may transform into malignant tumors. Participants aged 3 years and older with a clinical or genetic diagnosis of NF1 will undergo a series of assessments, including medical history reviews, blood tests, imaging scans, and cognitive evaluations for those aged 8 and older. The study will focus on distinguishing between benign and potentially malignant tumors using advanced imaging techniques and genetic markers. The ultimate goal is to improve surveillance strategies for patients at risk of malignant transformation.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 3 years and older with a clinical or genetic diagnosis of neurofibromatosis type 1.

Not a fit: Patients without a diagnosis of neurofibromatosis type 1 or those under 3 years old may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better prediction and management of cancer risk in patients with NF1.

How similar studies have performed: Previous studies have identified potential markers for malignant transformation in NF1, suggesting that this approach may build on existing knowledge rather than being entirely novel.

Eligibility criteria

* INCLUSION CRITERIA:

High-Risk and Low-Risk NF1 Cohorts

* Age \>= 3 years old
* Participants with clinical or genetic diagnosis of NF1.
* Participants with a diagnosis of mosaic or segmental NF1 are also eligible.
* Individuals may have (High-Risk Cohort) or not have (Low-Risk Cohort) at least one of the following characteristics:

  * Microdeletion or 844-848 missense variants or other variants associated with increased risk of malignant peripheral nervous sheath tumor (MPNST)
  * Family history of MPNST / atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) / atypical neurofibromas (ANF)
  * Personal history of MPNST/ANNUBP/ANF or neurofibroma with CDKN2A loss
  * Prior radiation therapy at any site
  * Large plexiform neurofibroma (PN) burden (\>= 350 mL)
  * Presence \>= 1 DNL at baseline
* The ability of the individual, parent/guardian or Legally Authorized Representative (LAR) to understand and the willingness to sign a written consent document for participation.

EXCLUSION CRITERIA:

High-Risk and Low-Risk NF1 Cohorts

\- Inability or unwillingness to undergo MRI imaging

INCLUSION CRITERIA:

Parent Cohort

* Parent or guardian of pediatric individuals (8-17 years old) in High-Risk or Low-Risk Cohorts.
* The ability of the parent/guardian or LAR to understand and the willingness to sign a written consent document for parent/guardian participation in this study.

EXCLUSION CRITERIA:

Parent Cohort

\- None.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)

Study contacts

• Principal investigator: Brigitte C Widemann, M.D. — National Cancer Institute (NCI)
• Study coordinator: Jennifer E Derise

Conditions: Neurofibromatosis 1, Nerve Sheath Neoplasms, NF1, atypical neurofibromas, Plexiform Neurofibromas, neurofibromas, PN, MPNST